Canonical Allele Identifier: CA373281187

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647957A>T (hg19) ; chr9:g.34647960A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647960A>T , CM000671.2:g.34647960A>T	GRCh38
NC_000009.11:g.34647957A>T , CM000671.1:g.34647957A>T	GRCh37
NC_000009.10:g.34637957A>T	NCBI36
NG_009029.1:g.6323A>T
NG_028966.1:g.776A>T
NG_009029.2:g.6372A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*94A>T	ENSP00000509954.1:n.*94A>T
ENST00000378842.8:c.506A>T MANE Select	ENSP00000368119.4:p.Gln169Leu
ENST00000378842.7:c.506A>T	ENSP00000368119.3:p.Gln169Leu
ENST00000450095.6:c.179A>T	ENSP00000401956.2:p.Gln60Leu
ENST00000465543.6:n.845A>T
ENST00000472111.5:n.762A>T
ENST00000473506.6:c.*94A>T	ENSP00000432839.2:n.*94A>T
ENST00000473529.5:n.642A>T
ENST00000485531.1:n.947A>T
ENST00000487381.5:n.891A>T
ENST00000489643.6:n.283-155A>T
ENST00000554085.5:c.*250A>T	ENSP00000450419.1:n.*250A>T
ENST00000554139.5:n.685A>T
ENST00000554550.5:c.*126A>T	ENSP00000451435.1:n.*126A>T
ENST00000554638.5:n.978A>T
ENST00000554897.5:c.*126A>T	ENSP00000450942.1:n.*126A>T
ENST00000554944.5:n.702A>T
ENST00000555020.5:n.662A>T
ENST00000555086.5:n.510A>T
ENST00000555214.5:n.262-88A>T
ENST00000556244.1:c.493A>T
ENST00000556278.1:c.253-155A>T	ENSP00000451792.1:n.253-155A>T
ENST00000556494.5:n.627A>T
ENST00000557706.5:n.1068A>T
NM_000155.3:c.506A>T	NP_000146.2:p.Gln169Leu
NM_001258332.1:c.179A>T	NP_001245261.1:p.Gln60Leu
NM_000155.4:c.506A>T MANE Select	NP_000146.2:p.Gln169Leu
NM_001258332.2:c.179A>T	NP_001245261.1:p.Gln60Leu